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. 2003 Jan;40(1):65–71. doi: 10.1136/jmg.40.1.65

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W

D Ballhausen, L Bonafe, P Terhal, S Unger, G Bellus, M Classen, B Hamel, J Spranger, B Zabel, D Cohn, W Cole, J Hecht, A Superti-Furga
PMCID: PMC1735262  PMID: 12525546

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